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Pkp1
Gene Detail
 Symbol
Name
ID
Pkp1
plakophilin 1
MGI:1328359
Feature Type protein coding gene
Genetic Map
Chromosome 1
59.35 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:135871395-135919207 bp, - strand
From VEGA annotation of GRCm38

  47813 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:253  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 2 dog; 1 chicken; 1 zebrafish

Gene Tree: Pkp1

Human
homologs
Human Homolog PKP1, plakophilin 1
NCBI Gene ID 5317
neXtProt AC  NX_Q13835
Human Synonyms  B6P
Human Chr (Location)  1q32; chr1:201283452-201332993 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human PKP1
Alleles
and
phenotypes
All alleles(4) : Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process cell adhesion, intermediate filament bundle assembly, ...
Component cell junction, desmosome, ...
Function lamin binding, protein binding
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (81)    Tissues (15)    Images (22)
Theiler Stages: 23, 25
Assay TypeResults
Immunohistochemistry 2
RNA in situ 79
cDNA source data(51)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(51) cDNA(51)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000022498 (Evidence)
Ensembl Gene ModelENSMUSG00000026413 (Evidence)
Entrez Gene18772 (Evidence)
UniGene4494
DFCITC1581735
DoTSDT.487695
NIA Mouse Gene IndexU021810
Consensus CDS ProjectCCDS15322.1
International Mouse Knockout Project StatusPkp1
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022498 VEGA Gene Model | MGI Sequence Detail 47813 C57BL/6J ±  kb
transcript OTTMUST00000090231 VEGA | MGI Sequence Detail 3023 Not Applicable 
polypeptide OTTMUSP00000049458 VEGA | MGI Sequence Detail 728 Not Applicable 

For the selected sequences
All sequences(27) RefSeq(4) UniProt(1)
Polymorphisms SNPs within 2kb(480 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000225 Armadillo
InterPro IPR011989 Armadillo-like helical
InterPro IPR016024 Armadillo-type fold
Protein Ontology PR:000012790 plakophilin-1
References (Earliest) J:113690 Hatzfeld M, et al., Band 6 protein, a major constituent of desmosomes from stratified epithelia, is a novel member of the armadillo multigene family. J Cell Sci. 1994 Aug;107(Pt 8):2259-70
(Latest) J:191121 Ferone G, et al., p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome. Hum Mol Genet. 2013 Feb 1;22(3):531-43
All references(38)
Other
accession IDs
MGI:2138285

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory